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Sangre|June 1, 1997
[Type 1 Gaucher disease in a pediatric patient: 12 year's evolution]M García, C Casanova, A Chabás, et al.
Revista De Neurologia|December 10, 1999
[Late infantile and juvenile form of GM2-gangliosidosis variant B1]J Eirís, A Chabás, M J Coll, et al.
Blood Cells, Molecules & Diseases|December 9, 2000
A new gene-pseudogene fusion allele due to a recombination in intron 2 of the glucocerebrosidase gene causes Gaucher diseaseB Cormand, A Díaz, D Grinberg, et al.
Journal of Inherited Metabolic Disease|January 1, 1994
Mild phenotypic expression of alpha-N-acetylgalactosaminidase deficiency in two adult siblingsA Chabás, M J Coll, M Aparicio, et al.
Clinical Genetics|July 31, 2007
Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosisL Gort, R Santamaria, D Grinberg, et al.
Prenatal Diagnosis|April 29, 1998
Reliable co-segregation analysis for prenatal diagnosis and heterozygote detection in Gaucher diseaseB Cormand, M Montfort, A Chabás, et al.
Anales Espanoles De Pediatria|March 23, 2001
[Gaucher's disease with D409H/D409H genotype. evolution with enzyme replacement therapy]F Castelló Girona, C Domínguez Luengo, M del Toro Riera, et al.
Anales Espanoles De Pediatria|August 1, 1983
[Mucolipidosis III. Apropos of a case]A Lacasa, A Chabás, F Vera, et al.
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